{
    "disease_id": "DOID:0050573",
    "recommended_name": {
        "id": "DOID:0050573",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050573",
        "name": "2-hydroxyglutaric aciduria",
        "description": "An amino acid metabolic disorder that is an autosomal recessive neurometabolic disorder characterized by the significant elevation of urinary levels of hydroxyglutaric acid causing progressive brain damage."
    },
    "synonyms": [],
    "children": [
        {
            "id": "DOID:0050574",
            "label": "L-2-hydroxyglutaric aciduria",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0050575",
            "label": "D-2-hydroxyglutaric aciduria",
            "link_status": true,
            "children": [
                {
                    "id": "DOID:0111351",
                    "label": "D-2-hydroxyglutaric aciduria 1",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0111352",
                    "label": "D-2-hydroxyglutaric aciduria 2",
                    "link_status": true,
                    "children": []
                }
            ]
        },
        {
            "id": "DOID:0111619",
            "label": "combined D-2- and L-2-hydroxyglutaric aciduria",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0050575",
        "DOID:0111619",
        "DOID:0111351",
        "DOID:0111352",
        "DOID:0050574",
        "DOID:0050573"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050573",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050573",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "B8A6D3-1",
            "uniprot_ac": "B8A6D3",
            "uniprot_id": "B8A6D3_DANRE",
            "refseq_ac": "NP_001139067",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "L-2-hydroxyglutarate dehydrogenase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.1.99.2",
                    "type": "synonym"
                },
                {
                    "name": "L-2-hydroxyglutarate dehydrogenase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "l2hgdh",
                    "type": "recommended"
                },
                {
                    "name": "l2hgdh",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-67f24.10",
                    "type": "synonym"
                }
            ],
            "record_id": "B8A6D3-1",
            "evidence": [
                {
                    "id": "0050573",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050573"
                }
            ]
        },
        {
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            "uniprot_ac": "Q6PGY3",
            "uniprot_id": "TXTPA_DANRE",
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                {
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                    "common_name": "Zebrafish",
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                }
            ],
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                {
                    "name": "Tricarboxylate transport protein A, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Citrate transport protein A",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 25 member 1a",
                    "type": "synonym"
                },
                {
                    "name": "cic",
                    "type": "synonym"
                },
                {
                    "name": "citrate transport protein A",
                    "type": "synonym"
                },
                {
                    "name": "citrate transporter), member 1a",
                    "type": "synonym"
                },
                {
                    "name": "citrate transporter), member 1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 25 (mitochondrial carrier",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 25, member 1",
                    "type": "synonym"
                },
                {
                    "name": "tricarboxylate transport protein A, mitochondrial",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "slc25a1a",
                    "type": "recommended"
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                {
                    "name": "slc25a1a",
                    "type": "synonym"
                },
                {
                    "name": "slc25a1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:63578",
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                }
            ],
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                {
                    "id": "0050573",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0050573"
                }
            ]
        },
        {
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                {
                    "name": "Danio rerio",
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                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tricarboxylate transport protein B, mitochondrial",
                    "type": "recommended"
                },
                {
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                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 25 member 1b",
                    "type": "synonym"
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                {
                    "name": "citrate transport protein B",
                    "type": "synonym"
                },
                {
                    "name": "citrate transporter), member 1b",
                    "type": "synonym"
                },
                {
                    "name": "citrate transporter), member 1",
                    "type": "synonym"
                },
                {
                    "name": "slc25a1 solute carrier family 25 (mitochondrial carrier",
                    "type": "synonym"
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                {
                    "name": "solute carrier family 25 (mitochondrial carrier",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 25 member 1b",
                    "type": "synonym"
                },
                {
                    "name": "tricarboxylate transport protein B, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "tricarboxylate transport protein, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "slc25a1b",
                    "type": "recommended"
                },
                {
                    "name": "slc25a1b",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0050573",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050573"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q91YP0-1",
            "uniprot_ac": "Q91YP0",
            "uniprot_id": "L2HDH_MOUSE",
            "refseq_ac": "NP_663418",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "L-2-hydroxyglutarate dehydrogenase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.1.99.2",
                    "type": "synonym"
                },
                {
                    "name": "Duranin",
                    "type": "synonym"
                },
                {
                    "name": "L-2-hydroxyglutarate dehydrogenase, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "L-2-hydroxyglutarate dehydrogenase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "duranin",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "L2hgdh",
                    "type": "recommended"
                },
                {
                    "name": "L2hgdh",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91YP0-1",
            "evidence": [
                {
                    "id": "0050573",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050573"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8JZU2-1",
            "uniprot_ac": "Q8JZU2",
            "uniprot_id": "TXTP_MOUSE",
            "refseq_ac": "NP_694790",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tricarboxylate transport protein, mitochondrial",
                    "type": "recommended"
                },
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                    "type": "synonym"
                },
                {
                    "name": "Citrate transport protein",
                    "type": "synonym"
                },
                {
                    "name": "DiGeorge syndrome gene j",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 25 member 1",
                    "type": "synonym"
                },
                {
                    "name": "Tricarboxylate carrier protein",
                    "type": "synonym"
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                {
                    "name": "citrate transport protein",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 25 member 1",
                    "type": "synonym"
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                {
                    "name": "tricarboxylate carrier protein",
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                },
                {
                    "name": "tricarboxylate transport protein, mitochondrial",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Slc25a1",
                    "type": "recommended"
                },
                {
                    "name": "1300019P08Rik",
                    "type": "synonym"
                },
                {
                    "name": "2610100G11Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ctp",
                    "type": "synonym"
                },
                {
                    "name": "Dgsj",
                    "type": "synonym"
                },
                {
                    "name": "Slc20a3",
                    "type": "synonym"
                },
                {
                    "name": "Slc25a1",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0050573",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050573"
                }
            ]
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        {
            "uniprot_canonical_ac": "P43617-1",
            "uniprot_ac": "P43617",
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            "refseq_ac": "",
            "glycoprotein": "no",
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                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Uncharacterized mitochondrial carrier YFR045W",
                    "type": "recommended"
                }
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                {
                    "id": "0050573",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050573"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38152-1",
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                {
                    "name": "Saccharomyces cerevisiae S288C",
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                }
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                {
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                {
                    "name": "Ctp1p",
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                {
                    "name": "CTP1",
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                {
                    "name": "CTP1",
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                {
                    "name": "YBR2039",
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                }
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                {
                    "id": "0050573",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050573"
                }
            ]
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        {
            "uniprot_canonical_ac": "D3ZVS2-1",
            "uniprot_ac": "D3ZVS2",
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            "glycoprotein": "no",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
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                }
            ],
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                {
                    "name": "L-2-hydroxyglutarate dehydrogenase, mitochondrial",
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            ],
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                {
                    "name": "L2hgdh",
                    "type": "recommended"
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                    "id": "0050573",
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                }
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            "uniprot_canonical_ac": "P32089-1",
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                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "Tricarboxylate transport protein, mitochondrial",
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                },
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                    "name": "CIC",
                    "type": "synonym"
                },
                {
                    "name": "CTP",
                    "type": "synonym"
                },
                {
                    "name": "Citrate carrier",
                    "type": "synonym"
                },
                {
                    "name": "Citrate transport protein",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 25 member 1",
                    "type": "synonym"
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                {
                    "name": "Tricarboxylate carrier protein",
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                },
                {
                    "name": "citrate carrier",
                    "type": "synonym"
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                {
                    "name": "citrate transport protein",
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                {
                    "name": "citrate transporter) member 1",
                    "type": "synonym"
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                {
                    "name": "mitochondrial tricarboxylate carrier",
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                {
                    "name": "solute carrier family 25 (mitochondrial carrier, citrate transporter), member 1",
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                    "name": "tricarboxylate transport protein, mitochondrial precursor",
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                {
                    "name": "tricarboxylate transport protein, mitochondrial",
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                }
            ],
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                {
                    "name": "Slc25a1",
                    "type": "recommended"
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                {
                    "name": "Cic",
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                },
                {
                    "name": "Ctp",
                    "type": "synonym"
                },
                {
                    "name": "Slc20a3",
                    "type": "synonym"
                },
                {
                    "name": "Slc25a1",
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                {
                    "id": "0050573",
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                }
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                {
                    "name": "Drosophila melanogaster",
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                    "name": "CG10639-PB",
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                    "name": "L-2-hydroxyglutarate dehydrogenase, isoform B",
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                {
                    "name": "L2HGDH-PB",
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                {
                    "name": "L2HGDH",
                    "type": "recommended"
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                    "name": "CG10639",
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                    "name": "Dmel\\CG10639",
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                    "name": "Dmel_CG10639",
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                {
                    "name": "dL2HGDH",
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                {
                    "id": "0050573",
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                }
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                {
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                    "name": "sea-PE",
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                    "name": "Dmel\\CG6782",
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                    "name": "sea[Delta24]",
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                    "name": "sea",
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                    "id": "0050573",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0050573"
                }
            ]
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            "uniprot_canonical_ac": "Q14192-1",
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            "refseq_ac": "NP_001034581",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
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                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
                    "name": "Four and a half LIM domains protein 2",
                    "type": "recommended"
                },
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                    "name": "FHL-2",
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                    "name": "LIM domain protein DRAL",
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                    "name": "down-regulated in rhabdomyosarcoma LIM protein",
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                {
                    "name": "four and a half LIM domains protein 2 isoform a",
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                    "name": "DRAL",
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                    "name": "FHL-2",
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                    "name": "FHL2",
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                {
                    "name": "SLIM-3",
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                    "name": "SLIM3",
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                }
            ],
            "record_id": "Q14192-1",
            "evidence": [
                {
                    "id": "0050573",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050573"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53007-1",
            "uniprot_ac": "P53007",
            "uniprot_id": "TXTP_HUMAN",
            "refseq_ac": "NP_005975",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tricarboxylate transport protein, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "CIC",
                    "type": "synonym"
                },
                {
                    "name": "CTP",
                    "type": "synonym"
                },
                {
                    "name": "Citrate transport protein",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial citrate carrier",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 25 member 1",
                    "type": "synonym"
                },
                {
                    "name": "Tricarboxylate carrier protein",
                    "type": "synonym"
                },
                {
                    "name": "citrate isocitrate carrier",
                    "type": "synonym"
                },
                {
                    "name": "citrate transport protein",
                    "type": "synonym"
                },
                {
                    "name": "citrate transporter), member 1",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial citrate carrier",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 20 (mitochondrial citrate transporter), member 3",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 25 (mitochondrial carrier",
                    "type": "synonym"
                },
                {
                    "name": "tricarboxylate carrier protein",
                    "type": "synonym"
                },
                {
                    "name": "tricarboxylate transport protein, mitochondrial isoform a precursor",
                    "type": "synonym"
                },
                {
                    "name": "tricarboxylate transport protein, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC25A1",
                    "type": "recommended"
                },
                {
                    "name": "CIC",
                    "type": "synonym"
                },
                {
                    "name": "CMS23",
                    "type": "synonym"
                },
                {
                    "name": "CTP",
                    "type": "synonym"
                },
                {
                    "name": "D2L2AD",
                    "type": "synonym"
                },
                {
                    "name": "SEA",
                    "type": "synonym"
                },
                {
                    "name": "SLC20A3",
                    "type": "synonym"
                },
                {
                    "name": "SLC25A1",
                    "type": "synonym"
                }
            ],
            "record_id": "P53007-1",
            "evidence": [
                {
                    "id": "0050573",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050573"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H9P8-1",
            "uniprot_ac": "Q9H9P8",
            "uniprot_id": "L2HDH_HUMAN",
            "refseq_ac": "NP_079160",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "L-2-hydroxyglutarate dehydrogenase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.1.99.2",
                    "type": "synonym"
                },
                {
                    "name": "2-hydroxyglutarate dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "Duranin",
                    "type": "synonym"
                },
                {
                    "name": "L-2-hydroxyglutarate dehydrogenase, mitochondrial isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "L-2-hydroxyglutarate dehydrogenase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "L-alpha-hydroxyglutarate dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "alpha-hydroxyglutarate oxidoreductase",
                    "type": "synonym"
                },
                {
                    "name": "alpha-ketoglutarate reductase",
                    "type": "synonym"
                },
                {
                    "name": "duranin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "L2HGDH",
                    "type": "recommended"
                },
                {
                    "name": "C14orf160",
                    "type": "synonym"
                },
                {
                    "name": "L2HGA",
                    "type": "synonym"
                },
                {
                    "name": "L2HGDH",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H9P8-1",
            "evidence": [
                {
                    "id": "0050573",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050573"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050573"
}